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Gene Regulations and Mutations

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Presentation on theme: "Gene Regulations and Mutations"— Presentation transcript:

1 Gene Regulations and Mutations

2 Gene Regulation Genes are regulated differently in prokaryotic cells vs. eukaryotic cells 21,000 genes in the human genome Expressed genes= genes that are turned into RNA

3 Prokaryotic Gene Regulation
Operon/Operator- a functioning unit of DNA containing a multiple genes under the control of a single promoter Usually only found in prokaryotes turns the genes “on” or “off”

4 Prokaryotic Gene Regulation
Repressor proteins stop the transcription process RNA polymerase is blocked by the protein and therefore cannot transcribe the gene.

5 Eukaryotic Gene Regulation
Genes are controlled individually Regulatory sequences are much more complex then in prokaryotes Genes are regulated by enhancer sequences Enhancer region

6 Cell specialization Cell specialization requires genetic specialization Specific cells must express specific proteins Pancreas= insulin protein Skin cells= keratin protein Blood cells= hemoglobin protein Only a small fraction of genes need to be expressed in any given cell Prokaryotes are single celled and so they have to express ALL genes

7 Development and Differentiation
Cells don’t just grow and divide during development they also differentiate specialized in structure and function

8 Hox Genes Cells become specialized based on location in the body and hox genes Hox genes- control the body plan of cells in the embryo

9 Mutations Mutation= changes in the DNA code during the replication process DNA polymerase adds the wrong nucleotides Changes in the gametes effect the entire organism Changes in the body cells effect only that cell

10 Chromosomal Mutations
Chromosomal mutations- changes to the whole chromosome Changes in the number or structure of chromosomes

11 Changes in Chromosome Number
What is the normal number of chromosome in a human cell? 46 (23 pairs)

12 Chromosomal mutations
Deletion Duplication Inversion Translocation

13 Gene Mutations Gene mutations- changes to a single gene

14 Types of Gene Mutations
Point mutation one base pair is replaced by another Changes in one or a few nucleotides

15 Types of Gene Mutations
Frameshift mutations Codon pairing changes, changing the whole sequence of amino acids Insertions: one or more base pairs are added to the sequence Deletions: one or more base pairs are deleted from the sequence

16 Effect of Mutations Silent Mutation- have not effect
Even though the RNA strand is effected the same amino acid sequence is made How is this possible? 1 amino acid is created by more than 1 codon

17 Effects of Mutations Substitution: base pair is substituted and the new codon codes for a different amino acid There are still the same number of bases in the RNA strand

18 Effects of Mutations Premature Stop: substitution results in the formation of a STOP codon before all codons have been translated UAA UAG UGA

19 Effects of Mutations Codon Deletion or Insertion: A whole new amino acid is added, or one is missing from the protein Caused by the addition or removal of bases in the DNA strand

20 Practice Evaluating Mutations
Original DNA Strand: TACGGGTACGGCGGCATT Original mRNA strand: Original amino acid Sequence: Mutated DNA Strand: TACGAUTACGGCGGCAUU Original mRNA strand: Original amino acid Sequence: Kind of Mutation: What is the Effect:

21 Significance of Mutations
No impact Most mutations are neutral Positive impact Mutations provide genetic variability in organisms Plant and animal breeders use beneficial mutations to better crops and livestock Negative tioimpact Harmful mutans cause genetic disorders

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